Variants
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rs876658005

  • Uncertain significance

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Description

The p.Lys105Gln variant in SOX10 has not been previously reported in individuals with hearing loss and was absent from large population studies. This missense v ariant occurs in the highly conserved HMG domain, which is a critical domain for the function of the protein and is largely intolerant to variation. In addition , computational prediction tools and conservation analyses suggest that the p.Ly s105Gln variant may impact the protein. However, this information is not predict ive enough to determine pathogenicity. In summary, the clinical significance of the p.Lys105Gln variant is uncertain.

Reference Allele

T


Alternative Allele

G

Chromosome

22


Location

37983472


Variant Type

SNP

Genes

Phenotypes

ClinVar

Name

NM_006941.4(SOX10):c.313A>C (p.Lys105Gln)


Allele

G


Clinical Significance

Uncertain significance

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